Canonical Allele Identifier: CA690846724
Gene: LTBR HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6382781C>G
GRCh37 chr12:g.6491947C>G
gnomAD v3:
12:6382781 C / G
gnomAD v4:
chr12-6382781-C-G
Joint Max Group AF 0.00012873 (AMR)
Genomes Max Group AF 0.00012873 (AMR)
dbSNP:
3759333
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6382781C>G , CM000674.2:g.6382781C>G GRCh38
NC_000012.11:g.6491947C>G , CM000674.1:g.6491947C>G GRCh37
NC_000012.10:g.6362208C>G NCBI36
NG_033039.1:g.12414C>G
NG_033039.2:g.12414C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000539925.5:c.40-1807C>G ENSP00000440875.1:n.40-1807C>G
ENST00000542830.5:n.266-1807C>G
ENST00000546296.5:n.551-1807C>G
NM_001270987.1:c.40-1807C>G NP_001257916.1:n.40-1807C>G
NM_001270987.2:c.40-1807C>G NP_001257916.1:n.40-1807C>G
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